Canonical Allele Identifier: CA1129185507
Gene: LMX1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126637749T>A , CM000671.2:g.126637749T>A GRCh38
NC_000009.11:g.129400028T>A , CM000671.1:g.129400028T>A GRCh37
NC_000009.10:g.128439849T>A NCBI36
NG_017039.1:g.28307T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355497.10:c.326+22180T>A ENSP00000347684.5:n.326+22180T>A
ENST00000373474.9:c.326+22180T>A MANE Select ENSP00000362573.3:n.326+22180T>A
ENST00000526117.6:c.326+22180T>A ENSP00000436930.1:n.326+22180T>A
ENST00000355497.9:c.326+22180T>A ENSP00000347684.5:n.326+22180T>A
ENST00000373474.8:c.326+22180T>A ENSP00000362573.3:n.326+22180T>A
ENST00000526117.5:c.326+22180T>A ENSP00000436930.1:n.326+22180T>A
ENST00000561065.1:c.257+22180T>A ENSP00000453580.1:n.257+22180T>A
NM_001174146.1:c.326+22180T>A NP_001167617.1:n.326+22180T>A
NM_001174147.1:c.326+22180T>A NP_001167618.1:n.326+22180T>A
NM_002316.3:c.326+22180T>A NP_002307.2:n.326+22180T>A
NM_001174146.2:c.326+22180T>A NP_001167617.1:n.326+22180T>A
NM_001174147.2:c.326+22180T>A MANE Select NP_001167618.1:n.326+22180T>A
NM_002316.4:c.326+22180T>A NP_002307.2:n.326+22180T>A